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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 7-95367601-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95367601&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 95367601,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_000940.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-113A>T",
          "hgvs_p": null,
          "transcript": "NM_000940.3",
          "protein_id": "NP_000931.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000265627.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000940.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000265627.10",
          "protein_id": "ENSP00000265627.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000940.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265627.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.512-74A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902762.1",
          "protein_id": "ENSP00000572821.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902762.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.521-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902763.1",
          "protein_id": "ENSP00000572822.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902763.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.512-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902748.1",
          "protein_id": "ENSP00000572807.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902748.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.506-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902749.1",
          "protein_id": "ENSP00000572808.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902749.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.512-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902752.1",
          "protein_id": "ENSP00000572811.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902752.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-74A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902760.1",
          "protein_id": "ENSP00000572819.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902760.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.512-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902758.1",
          "protein_id": "ENSP00000572817.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902758.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.512-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902764.1",
          "protein_id": "ENSP00000572823.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902764.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.506-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902755.1",
          "protein_id": "ENSP00000572814.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 357,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1074,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902755.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.377-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902757.1",
          "protein_id": "ENSP00000572816.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 357,
          "cds_start": null,
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          "cds_length": 1074,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000902757.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902756.1",
          "protein_id": "ENSP00000572815.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 351,
          "cds_start": null,
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          "cds_length": 1056,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.350-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902753.1",
          "protein_id": "ENSP00000572812.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "intron_rank": 3,
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          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.296-113A>T",
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          "transcript": "ENST00000902759.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000902759.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902750.1",
          "protein_id": "ENSP00000572809.1",
          "transcript_support_level": null,
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          "aa_length": 311,
          "cds_start": null,
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          "cds_length": 936,
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          "feature": "ENST00000902750.1"
        },
        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902751.1",
          "protein_id": "ENSP00000572810.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 936,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "intron_rank": 4,
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          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-3567A>T",
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          "transcript": "ENST00000902761.1",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.146-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000902754.1",
          "protein_id": "ENSP00000572813.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000902754.1"
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PON3",
          "gene_hgnc_id": 9206,
          "hgvs_c": "c.368-113A>T",
          "hgvs_p": null,
          "transcript": "ENST00000451904.5",
          "protein_id": "ENSP00000403850.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": null,
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          "cds_length": 813,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000451904.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "transcript": "ENST00000482624.5",
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          "biotype": "retained_intron",
          "feature": "ENST00000482624.5"
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      ],
      "gene_symbol": "PON3",
      "gene_hgnc_id": 9206,
      "dbsnp": "rs3757708",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.504,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_000940.3",
          "gene_symbol": "PON3",
          "hgnc_id": 9206,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.368-113A>T",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}